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1.
Neurology ; 97(7 Suppl 1): S81-S90, 2021 08 17.
Artigo em Inglês | MEDLINE | ID: mdl-34230206

RESUMO

Children with neurofibromatosis type 1 (NF1) are at increased risk for attention problems. While most research has been conducted with school-aged cohorts, preschool-aged children offer a novel developmental window for clinical studies, with the promise that treatments implemented earlier in the developmental trajectory may most effectively modify risk for later difficulties. Designing research studies around the youngest children with NF1 can result in intervention earlier in the developmental cascade associated with NF1 gene abnormalities. Furthermore, clinical trials for medications targeting physical and psychological aspects of NF1 often include individuals spanning a wide age range, including preschool-aged children. In a prior report, the REiNS Neurocognitive Subcommittee made recommendations regarding performance-based and observer-rated measures of attention for use in clinical trials and highlighted the need for separate consideration of assessment methods for young children. The observer-rated Attention-Deficit/Hyperactivity Disorder Rating Scale-Preschool version is recommended as a primary outcome measure. The NIH Toolbox Flanker, Dimensional Change Card Sort, and List Sort Working Memory tasks and Digits Forward from the Differential Ability Scales-2nd Edition (performance-based measures) are recommended as secondary outcome measures. Specific methodologic recommendations for inclusion of preschoolers in clinical trials research are also offered.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Neurofibromatoses/psicologia , Neurofibromatose 1/complicações , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Pré-Escolar , Escolaridade , Genes da Neurofibromatose 1/efeitos dos fármacos , Humanos , Masculino , Neurofibromatoses/complicações , Neurofibromatose 1/psicologia , Testes Neuropsicológicos
2.
Neurology ; 97(7 Suppl 1): S73-S80, 2021 08 17.
Artigo em Inglês | MEDLINE | ID: mdl-34230205

RESUMO

OBJECTIVE: To review parent-report social skills measures to identify and recommend consensus outcomes for use in clinical trials of social deficit in children and adolescents (ages 6-18 years) with neurofibromatosis type 1 (NF1). METHODS: Searches were conducted via PubMed and ClinicalTrials.gov to identity social skills outcome measures with English language versions used in clinical trials in the past 5 years with populations with known social skills deficits, including attention-deficit/hyperactivity disorder and autism spectrum disorder (ASD). Measures were rated by the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) Neurocognitive Committee on patient characteristics, use in published studies, domains assessed, availability of standard scores, psychometric properties, and feasibility to determine their appropriateness for use in NF1 clinical trials. RESULTS: Two measures were ultimately recommended by the committee: the Social Responsiveness Scale-2 (SRS-2) and the Social Skills Improvement System-Rating Scale (SSIS-RS). CONCLUSIONS: Each of the 2 measures assesses different aspects of social functioning. The SSIS-RS is appropriate for studies focused on broader social functioning; the SRS-2 is best for studies targeting problematic social behaviors associated with ASD. Researchers will need to consider the goals of their study when choosing a measure, and specific recommendations for their use are provided.


Assuntos
Transtorno do Espectro Autista/psicologia , Neurofibromatose 1/psicologia , Comportamento Social , Habilidades Sociais , Idoso , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Transtorno do Espectro Autista/terapia , Feminino , Humanos , Idioma , Masculino , Neurilemoma/psicologia , Neurofibromatoses/complicações , Neurofibromatoses/psicologia , Neurofibromatose 1/complicações , Neurofibromatose 1/terapia , Neoplasias Cutâneas/psicologia
3.
Mol Genet Genomic Med ; 8(10): e1399, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32924306

RESUMO

BACKGROUND: Persons with rare disorders may experience poorer health services due to limited knowledge about rare disorders among health professionals. Knowledge about how persons with rare disorders perceive health services can help inform service providers to enhance their practices. METHODS: We conducted a self-report survey among adults with the rare disorders hereditary spastic paraparesis (HSP; n = 108; mean age 57.7 years; 54.2% females) and neurofibromatosis type 1 (NF1, n = 142; mean age = 50.3 years; 62.0% females). Their responses concerning perceived health experiences were compared to healthy controls from the population study HUNT-3 (n = 7,312). RESULTS: Both rare disorder groups reported lower satisfaction, trust, and participation in meetings with their general practitioner and specialist health services. More reported health problems were overall associated with poorer health service experiences. CONCLUSION: There is a need to identify predictors of health service experiences at the patient and health service provider levels with the aim to tighten the gap between the health experiences of patients with and without rare disorders.


Assuntos
Neurofibromatose 1/psicologia , Satisfação do Paciente , Paraplegia Espástica Hereditária/psicologia , Adulto , Feminino , Humanos , Masculino , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/terapia , Pacientes/psicologia , Paraplegia Espástica Hereditária/diagnóstico , Paraplegia Espástica Hereditária/terapia
4.
Eur J Paediatr Neurol ; 28: 64-69, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32847704

RESUMO

OBJECTIVES: The objective was to investigate the serial mediating effects of perceived cognitive functioning and pain interference in daily living in the relationship between perceived pain and overall generic health-related quality of life (HRQOL) in children, adolescents, and young adults with Neurofibromatosis Type 1 (NF1). METHODS: The Pain, Cognitive Functioning, and Pain Impact Scales from the PedsQL Neurofibromatosis Type 1 Module and the PedsQL 4.0 Generic Core Scales were completed in a multi-site national study by 323 patients ages 5-25 and 335 parents. A serial multiple mediator model analysis was conducted to test the hypothesized sequential mediating effects of cognitive functioning and pain interference as intervening variables in the association between pain as a predictor variable and overall generic HRQOL. RESULTS: Pain predictive effects on overall generic HRQOL were serially mediated by cognitive functioning and pain interference. In predictive analytics models utilizing hierarchical multiple regression analyses with age and gender demographic covariates, pain, cognitive functioning and pain interference accounted for 66% of the variance in patient-reported generic HRQOL and 57% of the variance in parent proxy-reported generic HRQOL (P < 0.001), reflecting large effect sizes. CONCLUSIONS: Cognitive functioning and pain interference explain in part the mechanism of pain predictive effects on overall generic HRQOL in pediatric patients with NF1. Identifying NF1-specific pain, cognitive functioning, and pain interference as salient predictors of overall generic HRQOL from the patient and parent perspective facilitates a family-centered orientation to the comprehensive care of children, adolescents, and young adults with NF1.


Assuntos
Cognição , Neurofibromatose 1/psicologia , Dor/psicologia , Qualidade de Vida/psicologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Neurofibromatose 1/complicações , Dor/etiologia , Análise de Regressão , Adulto Jovem
5.
Am J Med Genet A ; 182(7): 1704-1715, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32484306

RESUMO

Neurofibromatosis type 1 (NF1) is a genetic condition characterized by numerous somatic manifestations. The psychosocial burden in adults has rarely been studied. We examined the prevalence of self-reported impairment of quality of life (QoL), symptoms of anxiety and depression and need for support, associated with disease severity and visibility. We conducted a nationwide cross-sectional study of all 467 adults with NF1 diagnosed between 1977 and 2016 at one of the two national centers for rare diseases in Denmark. A total of 244 (56% response rate) completed a questionnaire that included standard measures of QoL, symptoms of depression and anxiety, indicators of disease-related severity, visibility, and need for professional support. Associations between disease severity and visibility and psychosocial burden were analyzed in descriptive and multivariate models. We observed impaired QoL (mean = 81.3; 95% CI, 76.2; 86.4); 19% reported symptoms of depression (mean = 5.7; SD = 5.4), and 15% reported anxiety (mean = 5.1; SD = 5.2) at a clinical level. Adults with NF1 also reported requiring professional support for physical, psychological, and work-related problems. Disease severity and (partly) visibility were significantly (p < .0001) associated with psychosocial well-being and a requirement for support. This study provides new understanding of the factors associated with impaired QoL, indicating that follow-up care should be optimized into adult life.


Assuntos
Ansiedade/etiologia , Depressão/etiologia , Neurofibromatose 1/psicologia , Qualidade de Vida , Adolescente , Adulto , Idoso , Ansiedade/epidemiologia , Ansiedade/psicologia , Estudos Transversais , Dinamarca/epidemiologia , Depressão/epidemiologia , Depressão/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neurofibromatose 1/etiologia , Prevalência , Qualidade de Vida/psicologia , Adulto Jovem
6.
Eur J Hum Genet ; 28(8): 1028-1033, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32424325

RESUMO

Individuals with neurofibromatosis 1 (NF1) may have problems in managing the transition between childhood and adulthood, such as forming a relationship or finding a partner. We aimed to determine the association between NF1 and forming and ending marital or cohabiting relationships by comparing a large Danish population of adults with NF1 with population comparisons. In this population-based cohort study, we compared a population of Danish adults who were hospitalized for or with complications to prior diagnosed NF1 (n = 787) with population comparisons matched on gender and birth year (n = 7787) through nationwide registries with annually updated information on marriage and cohabitation. Discrete-time survival models were used to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) for the formation and termination of relationships, with adjustment for birth year, gender, and somatic and psychiatric comorbidities at entry. Individuals with NF1 were significantly less likely to form a relationship (HR = 0.65; 95% CI: 0.58-0.73), with the lowest association for individuals ≥33 years (HR 0.40; 95% CI: 0.25-0.63) and the highest for those aged 18-20 years (HR 0.82; 95% CI: 0.70-0.96). No significant difference was found for ending relationships (HR 1.00; 95% CI: 0.86-1.16). In conclusion, individuals who were hospitalized for NF1 are less likely to engage in marital or cohabiting relationships than population comparisons and are older when they form their first relationship. Once a relationship has been established, however, couples with a NF1-individual are not at greater risk of ending the relationship.


Assuntos
Casamento/estatística & dados numéricos , Neurofibromatose 1/epidemiologia , Adolescente , Adulto , Dinamarca , Divórcio/estatística & dados numéricos , Feminino , Hospitalização/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Neurofibromatose 1/psicologia
7.
J Genet Couns ; 29(6): 1151-1158, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32196829

RESUMO

Neurofibromatosis type 1 (NF1) is a genetic condition characterized by various cutaneous, neurological and psychological manifestations. The present study examined whether parental knowledge of NF1 is associated with a parent's NF1 status, affected or unaffected, and exposure to genetic counseling. Parents of children with NF1 were invited to complete an online survey answering true or false and multiple-choice questions to evaluate their overall knowledge of NF1. The study included 274 respondents, of which NF1 knowledge scores were significantly higher for unaffected parents (p < .001), and for parents who reported previously meeting with a genetic counselor (p < .001). Items pertaining to NF1-related cancer were least likely to be answered correctly. The results of the current study revealed lower overall NF1 knowledge in affected parents and knowledge gaps identifying areas where focused NF1 education may be beneficial.


Assuntos
Aconselhamento Genético/psicologia , Neurofibromatose 1/psicologia , Pais/psicologia , Criança , Feminino , Humanos , Masculino , Inquéritos e Questionários
8.
Dev Med Child Neurol ; 62(8): 977-984, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32052421

RESUMO

AIM: To describe the cognitive development of children with neurofibromatosis type 1 (NF1) and plexiform neurofibromas, and identify predictors of cognitive development. METHOD: Participants included 88 children with NF1 and plexiform neurofibromas (50 males, 38 females, aged 6-18y, mean=12y, SD=3y 7mo) on a natural history study at the National Cancer Institute. Neuropsychological assessments (e.g. IQ, academic achievement, attention, and executive functioning) were administered three times over 6 years. RESULTS: Relative to normative peers, the total sample of children with NF1 and plexiform neurofibromas demonstrated significantly lower scores in most cognitive domains and decreasing z-scores over time in math, writing, inhibitory control, and working memory. Children who had parents with (vs without) NF1 were more likely to experience decreased z-scores in performance IQ, reading, writing, attention, and working memory. Higher (vs lower) parental education was related to higher levels of IQ, math, reading, and cognitive flexibility and a slower decrease in math z-scores. Children's sex and the number of NF1 disease-related complications were not related to most cognitive outcomes. INTERPRETATION: Children with NF1 and plexiform neurofibromas are at high risk for cognitive difficulties and declining z-scores in various domains of cognitive functioning over time. The findings highlight the need for a better understanding of the within-group differences in these children and their need for individualized educational plans. WHAT THIS PAPER ADDS: Math, writing, inhibitory control, and working memory scores decreased over time. The proportion of children with clinically significant cognitive deficits increased over time. Parental neurofibromatosis type 1 and low education were related to greater cognitive difficulties in children.


Assuntos
Desenvolvimento Infantil , Cognição , Neurofibroma Plexiforme/psicologia , Neurofibromatose 1/psicologia , Adolescente , Criança , Feminino , Humanos , Estudos Longitudinais , Masculino , Neurofibroma Plexiforme/diagnóstico , Neurofibromatose 1/diagnóstico , Testes Neuropsicológicos
9.
Perm J ; 242020.
Artigo em Inglês | MEDLINE | ID: mdl-31905340

RESUMO

Both as a physician and as a patient, having neurofibromatosis type 1 has been an important part of my life. In my practice as a physician and as a professor, I have tried to reflect on the reality of living with a genetic condition and how it affects the way I live and practice medicine.


Assuntos
Atitude Frente a Saúde , Neurofibromatose 1/psicologia , Médicos/psicologia , Humanos
10.
Clin Neuropsychol ; 34(5): 1049-1064, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-31154935

RESUMO

Objective: Neurofibromatosis type 1 (NF-1) is an autosomal dominant genetic disorder that commonly presents with cognitive impairment and greater rates of learning disorders and academic difficulty compared to the general population. Investigations of neurological and physiological expression of NF-1 in monozygotic twins identified intrapair similarities and differences. Monozygotic twins with NF-1 have been found to have similar IQ scores as well as concordant diagnoses of attention-deficit/hyperactivity disorder and learning disabilities. There have been no previous reports on similarities and differences in neuropsychological profiles between monozygotic twins with NF-1. The purpose of this article is to examine the results of comprehensive neuropsychological evaluations for a pair of monozygotic twins with NF-1.Method: A pair of 19-year-old female, African-American monozygotic twins with NF-1 underwent neuropsychological evaluations in an outpatient clinic. Findings are reported following the CAse REport (CARE) guidelines.Results: The twins demonstrated similar impairment in processing speed, working memory, and attention span; however, differences also were found.Conclusions: Intrapair similarities and differences on neuropsychological assessment were found between monozygotic twins with NF-1. Primary deficits were suggestive of a frontal-subcortical pattern and could be consistent with remote neuroimaging. When differences did occur, performance was typically better for Twin A, who had also showed greater improvement on neuroimaging. Implications and directions for future research are discussed. Specifically, this case demonstrates the need for inclusion of neuropsychological assessment in studies of larger cohorts of monozygotic twins with NF-1 and correlation of neuropsychological findings with neuroimaging and postzygotic mutations.


Assuntos
Neurofibromatose 1/diagnóstico , Neurofibromatose 1/psicologia , Testes Neuropsicológicos/normas , Gêmeos Monozigóticos/genética , Adulto , Feminino , Humanos , Adulto Jovem
11.
Occup Med (Lond) ; 69(7): 504-510, 2019 Dec 07.
Artigo em Inglês | MEDLINE | ID: mdl-31674646

RESUMO

BACKGROUND: Neurofibromatosis type 1 (NF1) is a rare genetic disorder with usually benign nerve tumours, skin problems, pain and cardiovascular problems among common complications. AIMS: To examine work participation and experiences in relation to health complaints among adults with NF1. METHODS: We conducted a cross-sectional self-reported survey among 142 persons with NF1 (mean age = 50.3 years, SD = 12.0; 62% females). We measured physical and social dimensions of work experiences with eight items from the third wave of the epidemiological survey 'Nord-Trøndelag Health Study' (HUNT3). We compared NF1 data to 27 036 HUNT3 controls. We measured health complaints with the 29-item Subjective Health Complaints Inventory (SHC; subscales musculoskeletal pain, pseudoneurology and gastrointestinal problems) and compared NF1 data to norms. RESULTS: Compared to controls, significantly more persons with NF1 reported workplace bullying (13% versus 5%) and work as physically exhausting (74% versus 44%), whereas fewer reported work autonomy (64% versus 80%). Women with NF1 reported significantly more SHC than female norms (99% versus 86%). Men with NF1 reported significantly more pseudoneurology and gastrointestinal problems compared to male norms (76% versus 58%). SHC explained 9% of the variance in physical work experiences (ß = -0.47; 95% CI -0.76 to -0.19) and 8% of the variance in social work experiences (ß = 0.48; 95% CI 0.18-0.78). CONCLUSION: Persons with NF1 experience more physical and social work problems, and both work domains were related to health complaints. Individualized assessment and information to co-workers and managers may represent ways to increase work participation among persons with NF1.


Assuntos
Emprego/estatística & dados numéricos , Neurofibromatose 1/fisiopatologia , Neurofibromatose 1/psicologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Bullying/estatística & dados numéricos , Estudos Transversais , Feminino , Inquéritos Epidemiológicos , Humanos , Masculino , Pessoa de Meia-Idade , Noruega/epidemiologia , Qualidade de Vida , Comportamento Social , Carga de Trabalho
12.
Sch Psychol ; 34(6): 687-694, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31697154

RESUMO

Children and adolescents with the genetic, tumor predisposition syndrome neurofibromatosis type I (NF1) have varying degrees of physical stigmata characteristic of the disease and experience high rates of social difficulties. The present study was the first to formally examine the rate (i.e., percentage of participants) and frequency of bullying victimization in a school-age sample of individuals with NF1. Bullying is defined as harmful behavior that is intentional, repeated, and involves a power imbalance between perpetrators and targets. Given that physical stigmata are characteristic of NF1 to varying degrees, it was hypothesized that bullying experiences would be common in school-age children with NF1. The present study also examined factors including age, gender, and health care provider ratings of severity of physical stigmata on self-reported rates of bullying victimization. Eighty-one school-age children with NF1 and a parent completed established bullying questionnaires. Results showed about 62% of the sample reported being bullied at least once in the last year, with 24.7% reporting being bullied daily. Boys reported significantly greater frequencies of bullying than did girls. Unique differences of gender and level of physical stigmata emerged, such that girls with low stigmata burden experienced significantly higher rates of bullying than girls with high stigmata burden. No differences in frequencies of bullying between low stigmata boys and high stigmata boys were found. The present study suggests that rates of bullying in NF1 are very high, which may be undervalued among adults and medical professionals, given the lack of research on bullying toward youth with NF1. School psychologists are uniquely positioned to implement programs and interventions to address the high rate of bullying toward the school-age NF1 population. (PsycINFO Database Record (c) 2019 APA, all rights reserved).


Assuntos
Bullying/psicologia , Vítimas de Crime/psicologia , Neurofibromatose 1/psicologia , Instituições Acadêmicas , Estudantes/psicologia , Adolescente , Criança , Feminino , Humanos , Masculino , Comportamento Social
13.
BMJ Open ; 9(9): e030601, 2019 09 26.
Artigo em Inglês | MEDLINE | ID: mdl-31558455

RESUMO

INTRODUCTION: Children with the single-gene disorder neurofibromatosis type 1 (NF1) appear to be at an increased risk for autism spectrum disorder (ASD) and exhibit a unique social-cognitive phenotype compared with children with idiopathic ASD. A complete framework is required to better understand autism in NF1, from neurobiological levels through to behavioural and functional outcomes. The primary aims of this study are to establish the frequency of ASD in children with NF1, examine the social cognitive phenotype, investigate the neuropsychological processes contributing to ASD symptoms and poor social functioning in children with NF1, and to investigate novel structural and functional neurobiological markers of ASD and social dysfunction in NF1. The secondary aim of this study is to compare the neuropsychological and neurobiological features of ASD in children with NF1 to a matched group of patients with idiopathic ASD. METHODS AND ANALYSIS: This is an international, multisite, prospective, cross-sectional cohort study of children with NF1, idiopathic ASD and typically developing (TD) controls. Participants will be 200 children with NF1 (3-15 years of age), 70 TD participants (3-15 years) and 35 children with idiopathic ASD (7-15 years). Idiopathic ASD and NF1 cases will be matched on age, sex and intelligence. All participants will complete cognitive testing and parents will rate their child's behaviour on standardised questionnaires. Neuroimaging will be completed by a subset of participants aged 7 years and older. Children with NF1 that screen at risk for ASD on the parent-rated Social Responsiveness Scale 2nd Edition will be invited back to complete the Autism Diagnostic Observation Scale 2nd Edition and Autism Diagnostic Interview-Revised to determine whether they fulfil ASD diagnostic criteria. ETHICS AND DISSEMINATION: This study has hospital ethics approval and the results will be disseminated through peer-reviewed publications and international conferences.


Assuntos
Transtorno do Espectro Autista/etiologia , Comportamento Infantil , Cognição , Neurofibromatose 1/complicações , Fenótipo , Comportamento Social , Adolescente , Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/fisiopatologia , Transtorno do Espectro Autista/psicologia , Transtorno Autístico/psicologia , Criança , Desenvolvimento Infantil , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Masculino , Sistema Nervoso/fisiopatologia , Neurofibromatose 1/fisiopatologia , Neurofibromatose 1/psicologia , Estudos Prospectivos , Projetos de Pesquisa
14.
Neurología (Barc., Ed. impr.) ; 34(6): 353-359, jul.-ago. 2019. tab
Artigo em Espanhol | IBECS | ID: ibc-185452

RESUMO

Introducción: La neurofibromatosis tipo 1 (NF1) es un síndrome neurocutáneo frecuente que en muchos casos se asocia a dificultades cognitivas específicas que habitualmente no son tenidas en cuenta en el seguimiento médico de estos pacientes. Objetivo: Trazar el perfil cognitivo de pacientes con NF1 detectando trastornos en funciones superiores asociados al mismo. Identificar motivos de consulta de pacientes pediátricos con NF1 en relación con su desempeño escolar. Métodos: Trabajo descriptivo transversal. Se evaluó neuropsicológicamente a 24 pacientes con NF1 con edades comprendidas entre los 5 y los 16 años de edad. Resultados: Los motivos de consulta más frecuentes fueron: problemas atencionales (58,33%), aprendizaje (25%), coordinación motora (25%) y lenguaje (0,8%). Si bien el estudio reveló que el 96% de los pacientes tenía compromiso en al menos una de las áreas evaluadas, solo el 83,34% de los padres las refirieron. El 58,33% presentó trastorno por déficit de atención con hiperactividad (TDAH), el 33,33% trastorno de aprendizaje no verbal (TANV), el 20,83% dificultades en aspectos expresivos del lenguaje, el 8,33% coeficiente intelectual (CI) limítrofe, el 4,16% retraso mental y el 4,16% no mostró dificultades. Conclusiones: Existe alta frecuencia de trastornos en funciones superiores en niños con NF1. Aunque muchos padres detectan dichos trastornos, se ha observado que otros son subestimados. Consideramos conveniente que todos los niños con NF1 cuenten con una evaluación neuropsicológica a fin de poder detectar dificultades existentes en cada caso y así poder elaborar una estrategia de rehabilitación cognitiva precoz y efectiva


Introduction: Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome often associated with specific cognitive deficits that are rarely monitored during follow-up of these patients. Objective: The purpose of our study is two-fold. First, we aimed to describe the cognitive profile of patients with NF1 and detect disorders in higher brain functions associated with the disease. Second, we identified the reasons for consultation associated with school performance in these patients. Methods: We conducted a descriptive cross-sectional study of 24 paediatric patients (ages 5 to 16) with NF1 who underwent neuropsychological assessment. Results: The most frequent reasons for consultation were attention deficits (58.33%), learning disorders (25%), poor motor coordination (25%), and language impairment (0.8%). Although 96% of the patients displayed impairments in at least one of the assessed areas, only 83.34% of the parents had reported such impairments. Attention-deficit/hyperactivity disorder was present in 58.33% of the patients, whereas 33.33% had nonverbal learning disabilities, 20.83% had expressive language disorder, 8.33% had borderline intellectual functioning, 4.16% had mental retardation, and only 4.16% showed no cognitive impairment. Conclusion: Higher brain functions are frequently impaired in paediatric patients with NF1. Although many parents report such disorders, they can go undetected in some cases. Neuropsychological assessment is recommended for all paediatric patients with NF1 to detect cognitive impairment and provide early, effective rehabilitation treatment


Assuntos
Humanos , Masculino , Feminino , Criança , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/epidemiologia , Transtornos da Linguagem/diagnóstico , Deficiências da Aprendizagem/diagnóstico , Neurofibromatose 1/psicologia , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Estudos Transversais , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/epidemiologia , Transtornos da Linguagem/epidemiologia , Deficiências da Aprendizagem/epidemiologia , Testes Neuropsicológicos/estatística & dados numéricos
15.
Am J Med Genet A ; 179(8): 1476-1482, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31081992

RESUMO

The objective was to investigate the serial mediating effects of speech difficulties, patient health communication, and disease-specific worry in the relationship between neurofibromatosis (NF) symptoms (pain and skin symptoms) and total generic health-related quality of life (HRQOL) in children, adolescents, and young adults with NF Type 1 (NF1) from the patient perspective. The Speech, Communication, Worry, Pain, Skin Itch Bother, and Skin Sensations Scales from the Pediatric Quality of Life Inventory (PedsQL) NF1 Module and the PedsQL 4.0 Generic Core Scales were completed in a multi-site national study by 305 patients ages 5-25 years. A serial multiple mediator model analysis was conducted to test the hypothesized sequential mediating effects of speech difficulties, health communication, and worry as intervening variables in the association between NF1 symptoms and HRQOL. Symptoms predictive effects on total generic HRQOL were serially mediated by speech difficulties, patient health communication, and worry. In predictive analytics models utilizing hierarchical multiple regression analyses with age and gender demographic covariates, the pain, skin itch bother, and skin sensations multiple mediator models accounted for 61%, 59%, and 56% of the variance in generic HRQOL (p < .001), reflecting large effect sizes. Speech difficulties, patient health communication, and disease-specific worry explain in part the mechanism of symptoms predictive effects on total generic HRQOL in pediatric patients with NF1. Identifying NF1-specific predictors and serial mediators of total generic HRQOL in pediatric patients with NF1 from the patient perspective enables a patient-centered comprehensive care approach for children, adolescents, and young adults with NF1.


Assuntos
Ansiedade/psicologia , Comunicação em Saúde , Neurofibromatose 1/psicologia , Dor/psicologia , Prurido/psicologia , Qualidade de Vida/psicologia , Distúrbios da Fala/psicologia , Adolescente , Adulto , Ansiedade/diagnóstico , Ansiedade/fisiopatologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/fisiopatologia , Dor/diagnóstico , Dor/fisiopatologia , Prurido/diagnóstico , Prurido/fisiopatologia , Análise de Regressão , Índice de Gravidade de Doença , Fala/fisiologia , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/fisiopatologia
16.
Dev Med Child Neurol ; 61(8): 972-978, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30659594

RESUMO

AIM: To characterize the adaptive behavior profile of children with neurofibromatosis type 1 (NF1) and determine its relationship to neuropsychological functioning and non-neoplastic T2-weighted hyperintense brain lesions on brain magnetic resonance imaging (MRI). METHOD: In this cross-sectional study, we retrospectively reviewed neuropsychological reports from 104 children with NF1 (56 males, 48 females; mean age 10y 4mo; standard deviation [SD] 3y 4mo; range 3y 5mo-17y 6mo), and extracted data from a range of cognitive and behavioral measures, including the Adaptive Behavior Assessment System (ABAS). Brain MRI was retrospectively reviewed in 42 individuals. RESULTS: Adaptive Behavior Assessment System scores were continuously distributed and pathologically shifted by 0.79 to 1.26SD across Conceptual, Social, and Practical domains, and 46.5% of individuals had a composite score in the borderline or impaired range. Impairment in adaptive functioning was correlated with deficits in executive function (r=-9.543, p<0.001), externalizing problems (r=-0.366, p<0.001), and attention (r=-9.467, p=0.001). Cluster analysis revealed three distinct phenotypic subgroups, one of which exhibited normal cognitive ability, but impaired adaptive functioning, with persistent deficits in executive function, behavioral problems, and attention-deficit/hyperactivity disorder symptomatology. There was no relationship between ABAS scores and the number or location of unidentified bright objects. INTERPRETATION: Adaptive functioning deficits are common among children with NF1 and are associated with impairment in other cognitive/behavioral domains, independent of general cognitive ability. WHAT THIS PAPER ADDS: Deficits in adaptive behavior are common in children with neurofibromatosis type 1 (NF1). Poor adaptive functioning is associated with impairments in executive function, externalizing behaviors, and attention, regardless of cognitive ability. The presence or location of unidentified bright objects do not predict adaptive behavior skills in children with NF1.


Assuntos
Atividades Cotidianas/psicologia , Adaptação Psicológica/fisiologia , Encéfalo/diagnóstico por imagem , Cognição/fisiologia , Neurofibromatose 1/psicologia , Adolescente , Atenção/fisiologia , Criança , Pré-Escolar , Estudos Transversais , Função Executiva/fisiologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Neurofibromatose 1/diagnóstico por imagem , Testes Neuropsicológicos , Estudos Retrospectivos
17.
BMJ Open ; 9(12): e033353, 2019 12 29.
Artigo em Inglês | MEDLINE | ID: mdl-31888936

RESUMO

OBJECTIVES: There are more than 6000 heterogeneous rare diseases and little is known about shared experiences of affected individuals in everyday life and healthcare. Objective of this study was to explore perceived burden of patients with rare chronic diseases and identify commonalities and differences in the experiences of patients with four heterogeneous conditions. DESIGN: A qualitative focus group study. SETTING: In four separate and diagnostically homogeneous focus groups, we asked patients about the perceived burden of living with their rare disease. The focus groups took place at a university medical centre in Germany. PARTICIPANTS: Individuals with neurofibromatosis type 1 (n=4), primary sclerosing cholangitis (n=5), pulmonary arterial hypertension (n=4) and Marfan syndrome (n=5). RESULTS: We identified five main themes: medical problems, psychological burden, problems with the healthcare system, constraints and interpersonal problems. While medical problems differed widely between the diagnostic groups, patients with different conditions independently reported many common problems including psychological burden, constraints in professional, personal and daily life, stigmatisation and others lacking understanding. Shared problems pertaining to the healthcare system seem related to the rarity of the conditions (eg, limited access to adequate care, lack of knowledge). CONCLUSIONS: Despite clinical heterogeneity of rare diseases, affected individuals have many common experiences. Some of these experiences may resemble the burden of living with a chronic disease. However, patients reported aspects, which seem to be specific for rare chronic diseases. Generic interventions targeting shared burdens among patients with different diseases could provide adequate treatment in light of finite healthcare resources.


Assuntos
Efeitos Psicossociais da Doença , Doenças Raras/terapia , Adulto , Idoso , Colangite Esclerosante/psicologia , Colangite Esclerosante/terapia , Feminino , Grupos Focais , Alemanha , Humanos , Masculino , Síndrome de Marfan/psicologia , Síndrome de Marfan/terapia , Pessoa de Meia-Idade , Neurofibromatose 1/psicologia , Neurofibromatose 1/terapia , Hipertensão Arterial Pulmonar/psicologia , Hipertensão Arterial Pulmonar/terapia , Doenças Raras/psicologia
18.
Dev Med Child Neurol ; 61(2): 174-180, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-29873078

RESUMO

AIM: To examine visual attention to faces within social scenes in children with neurofibromatosis type 1 (NF1) and typically developing peers. METHOD: Using eye-tracking technology we investigated the time taken to fixate on a face and the percentage of time spent attending to faces relative to the rest of the screen within social scenes in 24 children with NF1 (17 females, seven males; mean age 10y 4mo [SD 1y 9mo]). Results were compared with those of 24 age-matched typically developing controls (11 females, 13 males; mean age 10y 3mo [SD 2y]). RESULTS: There was no significant between-group differences in time taken to initially fixate on a face (p=0.617); however, children with NF1 spent less time attending to faces within scenes than controls (p=0.048). Decreased attention to faces was associated with elevated autism traits in children with NF1. INTERPRETATION: Children with NF1 spend less time attending to faces than typically developing children when presented in social scenes. Our findings contribute to a growing body of literature suggesting that abnormal face processing is a key aspect of the social-cognitive phenotype of NF1 and appears to be related to autism spectrum disorder traits. Clinicians should consider the impact of reduced attention to faces when designing and implementing treatment programmes for social dysfunction in this population. WHAT THIS PAPER ADDS: Children with neurofibromatosis type 1 (NF1) demonstrated atypical gaze behaviour when attending to faces. NF1 gaze behaviour was characterized by normal initial fixation on faces but shorter face dwell time. Decreased attention to faces was associated with elevated autism traits in the sample with NF1.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/etiologia , Neurofibromatose 1/complicações , Neurofibromatose 1/psicologia , Reconhecimento Psicológico/fisiologia , Comportamento Social , Adolescente , Criança , Movimentos Oculares , Feminino , Humanos , Masculino , Estimulação Luminosa
19.
Neurologia (Engl Ed) ; 34(6): 353-359, 2019.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-28431841

RESUMO

INTRODUCTION: Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome often associated with specific cognitive deficits that are rarely monitored during follow-up of these patients. OBJECTIVE: The purpose of our study is two-fold. First, we aimed to describe the cognitive profile of patients with NF1 and detect disorders in higher brain functions associated with the disease. Second, we identified the reasons for consultation associated with school performance in these patients. METHODS: We conducted a descriptive cross-sectional study of 24 paediatric patients (ages 5 to 16) with NF1 who underwent neuropsychological assessment. RESULTS: The most frequent reasons for consultation were attention deficits (58.33%), learning disorders (25%), poor motor coordination (25%), and language impairment (0.8%). Although 96% of the patients displayed impairments in at least one of the assessed areas, only 83.34% of the parents had reported such impairments. Attention-deficit/hyperactivity disorder was present in 58.33% of the patients, whereas 33.33% had nonverbal learning disabilities, 20.83% had expressive language disorder, 8.33% had borderline intellectual functioning, 4.16% had mental retardation, and only 4.16% showed no cognitive impairment. CONCLUSION: Higher brain functions are frequently impaired in paediatric patients with NF1. Although many parents report such disorders, they can go undetected in some cases. Neuropsychological assessment is recommended for all paediatric patients with NF1 to detect cognitive impairment and provide early, effective rehabilitation treatment.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/epidemiologia , Transtornos da Linguagem/diagnóstico , Deficiências da Aprendizagem/diagnóstico , Neurofibromatose 1/psicologia , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Criança , Estudos Transversais , Feminino , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/epidemiologia , Transtornos da Linguagem/epidemiologia , Deficiências da Aprendizagem/epidemiologia , Masculino , Testes Neuropsicológicos/estatística & dados numéricos
20.
J Pediatr ; 206: 190-196, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30413310

RESUMO

OBJECTIVE: To assess the health-related quality of life of children with neurofibromatosis type 1-related plexiform neurofibromas (pNF) using a battery of patient-reported outcome measures selected based on a conceptual framework derived from input by patients, parents, and clinicians regarding the most important pNF symptoms and concerns. STUDY DESIGN: There were 140 children with pNF ages 8-17 years who completed the Patient-Reported Outcomes Measurement Information System (including domains anxiety, depressive symptom, psychosocial stress experiences, fatigue, pain interference, meaning and purpose, positive affect, peer relationships, physical function-mobility) and Quality of Life in Neurological Disorders measurement system (stigma) via an online platform. T-scores for each measure were compared with US population norms. RESULTS: Children with pNF reported significantly worse scores than the population norms on 8 of 10 domains. Children with at least 1 family member having a diagnosis of neurofibromatosis type 1 and those having pain reported significantly worse symptoms and functioning on all domains. Boys reported significantly worse pain interference, stigma, meaning and purpose, mobility function, and upper extremity function than girls. CONCLUSIONS: Children with pNF experience significantly worse health-related quality of life on all but 1 domain, highlighting the importance of monitoring children's quality of life over time in clinical research and practice. Future research should evaluate the replicability of these findings and evaluate the validity of the Patient-Reported Outcomes Measurement Information System and Quality of Life in Neurological Disorders measurement system in relation to clinical characteristics among children with pNF.


Assuntos
Neurofibroma Plexiforme/complicações , Neurofibroma Plexiforme/psicologia , Neurofibromatose 1/complicações , Neurofibromatose 1/psicologia , Medidas de Resultados Relatados pelo Paciente , Qualidade de Vida , Adolescente , Sintomas Comportamentais , Estudos de Casos e Controles , Criança , Feminino , Humanos , Masculino , Autorrelato
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